Search Results - "Esnaola Azcoiti, Maria"

Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome by Correa Brito, Lourdes, Keselman, Ana, Villegas, Florencia, Scaglia, Paula, Esnaola Azcoiti, María, Castro, Sebastián, Sanguineti, Nora, Izquierdo, Agustín, Maier, Marianela, Bergadá, Ignacio, Arberas, Claudia, Rey, Rodolfo A, Ropelato, María Gabriela

“…Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome…”
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Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development by Correa Brito, Lourdes, Grinspon, Romina P, Lopez Dacal, Jimena, Scaglia, Paula, Esnaola Azcoiti, María, Izquierdo, Agustín, Ropelato, María Gabriela, Rey, Rodolfo A

“…In patients with 46,XY disorders of sex development (DSDs), next-generation sequencing (NGS) has high diagnostic efficiency. One contribution to this…”
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Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report by Castro, Sebastián, Brunello, Franco G, Sansó, Gabriela, Scaglia, Paula, Esnaola Azcoiti, María, Izquierdo, Agustín, Villegas, Florencia, Bergadá, Ignacio, Ropelato, María Gabriela, Martí, Marcelo A, Rey, Rodolfo A, Grinspon, Romina P

“…Pubertal delay in males is frequently due to constitutional delay of growth and puberty, but pathologic hypogonadism should be considered. After general…”
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Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases by Rosain, Jérémie, Le Voyer, Tom, Liu, Xian, Gervais, Adrian, Polivka, Laura, Cederholm, Axel, Berteloot, Laureline, Parent, Audrey V, Pescatore, Alessandra, Spinosa, Ezia, Minic, Snezana, Kiszewski, Ana Elisa, Tsumura, Miyuki, Thibault, Chloé, Esnaola Azcoiti, Maria, Martinovic, Jelena, Philippot, Quentin, Khan, Taushif, Marchal, Astrid, Charmeteau-De Muylder, Bénédicte, Bizien, Lucy, Deswarte, Caroline, Hadjem, Lillia, Fauvarque, Marie-Odile, Dorgham, Karim, Eriksson, Daniel, Falcone, Emilia Liana, Puel, Mathilde, Ünal, Sinem, Geraldo, Amyrath, Le Floc'h, Corentin, Li, Hailun, Rheault, Sylvie, Muti, Christine, Bobrie-Moyrand, Claire, Welfringer-Morin, Anne, Fuleihan, Ramsay L, Lévy, Romain, Roelens, Marie, Gao, Liwei, Materna, Marie, Pellegrini, Silvia, Piemonti, Lorenzo, Catherinot, Emilie, Goffard, Jean-Christophe, Fekkar, Arnaud, Sacko-Sow, Aissata, Soudée, Camille, Boucherit, Soraya, Neehus, Anna-Lena, Has, Cristina, Hübner, Stefanie, Blanchard-Rohner, Géraldine, Amador-Borrero, Blanca, Utsumi, Takanori, Taniguchi, Maki, Tani, Hiroo, Izawa, Kazushi, Yasumi, Takahiro, Kanai, Sotaro, Migaud, Mélanie, Aubart, Mélodie, Lambert, Nathalie, Gorochov, Guy, Picard, Capucine, Soudais, Claire, L'Honneur, Anne-Sophie, Rozenberg, Flore, Milner, Joshua D, Zhang, Shen-Ying, Vabres, Pierre, Trpinac, Dusan, Marr, Nico, Boddaert, Nathalie, Desguerre, Isabelle, Pasparakis, Manolis, Miller, Corey N, Poziomczyk, Cláudia S, Abel, Laurent, Okada, Satoshi, Jouanguy, Emmanuelle, Cheynier, Rémi, Zhang, Qian, Cobat, Aurélie, Béziat, Vivien, Boisson, Bertrand, Steffann, Julie, Fusco, Francesca, Ursini, Matilde Valeria, Hadj-Rabia, Smail, Bodemer, Christine, Bustamante, Jacinta, Luche, Hervé, Puel, Anne, Courtois, Gilles, Bastard, Paul, Landegren, Nils, Anderson, Mark S, Casanova, Jean-Laurent

“…Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral…”
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Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features by Bezrodnik, Liliana, Di Giovanni, Daniela, Caldirola, María Soledad, Azcoiti, María Esnaola, Torgerson, Troy, Gaillard, María Isabel

“…ᅟ The signal transducer and activator of transcription (STAT) family of proteins regulate gene transcription in response to a variety of cytokines. STAT5B, in…”
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Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations by Gutiérrez, Mariana, Scaglia, Paula, Keselman, Ana, Martucci, Lucía, Karabatas, Liliana, Domené, Sabina, Martin, Ayelen, Pennisi, Patricia, Blanco, Miguel, Sanguineti, Nora, Bezrodnik, Liliana, Di Giovanni, Daniela, Caldirola, María Soledad, Azcoiti, María Esnaola, Gaillard, María Isabel, Denson, Lee A., Zhang, Kejian, Husami, Ammar, Yayah Jones, Nana-Hawa, Hwa, Vivian, Revale, Santiago, Vázquez, Martín, Jasper, Héctor, Kumar, Ashish, Domené, Horacio

“…Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect associated with multi-organ autoimmune disease and, in some cases, severe…”
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CLINICAL FEATURES AND LABORATORY FINDINGS OF DISREGULATORY SYNDROMES IN AN ARGENTINEAN COHORT by Analia, Seminario, Maria, Esnaola Azcoiti, Maria, Caldirola, Lorena, Regairaz, Maria, Gaillard, Liliana, Bezrodnik

“…Abstract only…”
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THU211 Novel SIN3A Loss-Of-Function Variant As Potentially Pathogenic For Hypogonadotropic Hypogonadism In Witteveen-Kolk Syndrome by Correa Brito, Lourdes Magdalena, Keselman, Ana Claudia, Sanguineti, Nora Maria, Scaglia, Paula Alejandra, Azcoiti, María Esnaola, Villegas, Florencia, Maier, Marianela, Bergada, Ignacio, Ropelato, Maria Gabriela, Rey, Rodolfo A

“…Abstract Disclosure: L.M. Correa Brito: None. A.C. Keselman: None. N.M. Sanguineti: None. P.A. Scaglia: None. M. Esnaola Azcoiti: None. F. Villegas: None. M…”
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Inherited p40^sup phox^ deficiency differs from classic chronic granulomatous disease by van de Geer, Annemarie, van Hamme, John L, van Houdt, Michel, van Leeuwen, Karin, Verkuijlen, Paul J H, van den Berg, Timo K, Alzate, Juan F, Arango-Franco, Carlos A, Batura, Vritika, Bernasconi, Andrea R, Boardman, Barbara, Nieto-Patlán, Alejandro, Booth, Claire, Burns, Siobhan O, Cabarcas, Felipe, Bensussan, Nadine Cerf, Charbit-Henrion, Fabienne, Corveleyn, Anniek, Deswarte, Caroline, Azcoiti, María Esnaola, Foell, Dirk, Gallin, John I, Kuhns, Douglas B, Garcés, Carlos, Guedes, Margarida, Hinze, Claas H, Holland, Steven M, Hughes, Stephen M, Ibañez, Patricio, Malech, Harry L, Meyts, Isabelle, Moncada-Velez, Marcela, Moriya, Kunihiko, Tool, Anton T J, Neves, Esmeralda, Oleastro, Matias, Perez, Laura, Rattina, Vimel, Oleaga-Quintas, Carmen, Warner, Neil, Muise, Aleixo M, López, Jeanet Serafín, Trindade, Eunice, Vasconcelos, Julia, Arias, Andrés A, Vermeire, Séverine, Wittkowski, Helmut, Worth, Austen, Abel, Laurent, Dinauer, Mary C, Arkwright, Peter D, Roos, Dirk, Casanova, Jean-Laurent, Kuijpers, Taco W, Bustamante, Jacinta, Bouaziz, Matthieu, de Boer, Martin, Franco, José Luis, Gazendam, Roel P

“…Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1…”
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OR15-03 High Prevalence of Gene Variants in Boys of Prepubertal Age with Clinical Suspicion of Central Hypogonadism and Low AMH by Brunello, Franco, Sansó, E Gabriela, Scaglia, Paula, Azcoiti, María Esnaola, Berenstein, Ariel, Izquierdo, Agustín, Bedecarrás, Patricia, Martí, Marcelo, Ropelato, M Gabriela, Rey, Rodolfo Alberto, Grinspon, Romina, Freire, Analía

“…Abstract Introduction: In boys of prepubertal age, the diagnosis of central hypogonadism may be difficult to ascertain since gonadotropins and testosterone are…”
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Inherited p40phox deficiency differs from classic chronic granulomatous disease by van de Geer, Annemarie, Nieto-Patlán, Alejandro, Kuhns, Douglas B, Tool, Anton Tj, Arias, Andrés A, Bouaziz, Matthieu, de Boer, Martin, Franco, José Luis, Gazendam, Roel P, van Hamme, John L, van Houdt, Michel, van Leeuwen, Karin, Verkuijlen, Paul Jh, van den Berg, Timo K, Alzate, Juan F, Arango-Franco, Carlos A, Batura, Vritika, Bernasconi, Andrea R, Boardman, Barbara, Booth, Claire, Burns, Siobhan O, Cabarcas, Felipe, Bensussan, Nadine Cerf, Charbit-Henrion, Fabienne, Corveleyn, Anniek, Deswarte, Caroline, Azcoiti, María Esnaola, Foell, Dirk, Gallin, John I, Garcés, Carlos, Guedes, Margarida, Hinze, Claas H, Holland, Steven M, Hughes, Stephen M, Ibañez, Patricio, Malech, Harry L, Meyts, Isabelle, Moncada-Velez, Marcela, Moriya, Kunihiko, Neves, Esmeralda, Oleastro, Matias, Perez, Laura, Rattina, Vimel, Oleaga-Quintas, Carmen, Warner, Neil, Muise, Aleixo M, López, Jeanet Serafín, Trindade, Eunice, Vasconcelos, Julia, Vermeire, Séverine, Wittkowski, Helmut, Worth, Austen, Abel, Laurent, Dinauer, Mary C, Arkwright, Peter D, Roos, Dirk, Casanova, Jean-Laurent, Kuijpers, Taco W, Bustamante, Jacinta

“…Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1…”
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Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development by Correa Brito, Lourdes, Grinspon, Romina P, Lopez Dacal, Jimena, Scaglia, Paula, Esnaola Azcoiti, María, Izquierdo, Agustín, Ropelato, María Gabriela, Rey, Rodolfo A

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Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome by Correa Brito, Lourdes, Keselman, Ana, Villegas, Florencia, Scaglia, Paula, Esnaola Azcoiti, María, Castro, Sebastián, Sanguineti, Nora, Izquierdo, Agustín, Maier, Marianela, Bergadá, Ignacio, Arberas, Claudia, Rey, Rodolfo A, Ropelato, María Gabriela

“…Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome…”
Get full text

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report by Castro, Sebastián, Brunello, Franco G, Sansó, Gabriela, Scaglia, Paula, Esnaola Azcoiti, María, Izquierdo, Agustín, Villegas, Florencia, Bergadá, Ignacio, Ropelato, María Gabriela, Martí, Marcelo A, Rey, Rodolfo A, Grinspon, Romina P

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